Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM1PM2_SupportingBP4_Moderate
The NM_006446(SLCO1B1):c.388A>C(p.Asn130His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N130D) has been classified as Benign.
Verdict is Uncertain_significance. Variant got 1 ACMG points.
GnomAD3 genomesCov.: 32 GnomAD4 exome AF: 0.00000146AC: 2AN: 1372218Hom.: 0 AF XY: 0.00000146AC XY: 1AN XY: 686026
ClinVarNot reported in
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